Epilepsies, Myoclonic: A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.).Myoclonic Epilepsy, Juvenile: A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323)Epilepsy: A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)Epilepsy, Generalized: Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)Myoclonus: Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3).Myoclonic Epilepsies, Progressive: A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.Anticonvulsants: Drugs used to prevent SEIZURES or reduce their severity.Epilepsy, Temporal Lobe: A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)Epilepsy, Reflex: A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)Electroencephalography: Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.Epilepsy, Tonic-Clonic: A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329)MERRF Syndrome: A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)Myoclonic Cerebellar Dyssynergia: A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)Seizures: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."Epilepsy, Absence: A childhood seizure disorder characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)NAV1.1 Voltage-Gated Sodium Channel: A voltage-gated sodium channel subtype that is predominantly expressed in the CENTRAL NERVOUS SYSTEM. Defects in the SCN1A gene which codes for the alpha subunit of this sodium channel are associated with DRAVET SYNDROME, generalized epilepsy with febrile seizures plus, type 2 (GEFS+2), and familial hemiplegic migraine type 3.Piracetam: A compound suggested to be both a nootropic and a neuroprotective agent.Spasms, Infantile: An epileptic syndrome characterized by the triad of infantile spasms, hypsarrhythmia, and arrest of psychomotor development at seizure onset. The majority present between 3-12 months of age, with spasms consisting of combinations of brief flexor or extensor movements of the head, trunk, and limbs. The condition is divided into two forms: cryptogenic (idiopathic) and symptomatic (secondary to a known disease process such as intrauterine infections; nervous system abnormalities; BRAIN DISEASES, METABOLIC, INBORN; prematurity; perinatal asphyxia; TUBEROUS SCLEROSIS; etc.). (From Menkes, Textbook of Child Neurology, 5th ed, pp744-8)Valproic Acid: A fatty acid with anticonvulsant properties used in the treatment of epilepsy. The mechanisms of its therapeutic actions are not well understood. It may act by increasing GAMMA-AMINOBUTYRIC ACID levels in the brain or by altering the properties of voltage dependent sodium channels.Epilepsy, Complex Partial: A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)Seizures, Febrile: Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784)Pentylenetetrazole: A pharmaceutical agent that displays activity as a central nervous system and respiratory stimulant. It is considered a non-competitive GAMMA-AMINOBUTYRIC ACID antagonist. Pentylenetetrazole has been used experimentally to study seizure phenomenon and to identify pharmaceuticals that may control seizure susceptibility.Epilepsy, Frontal Lobe: A localization-related (focal) form of epilepsy characterized by seizures which arise in the FRONTAL LOBE. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)Epilepsy, Rolandic: An autosomal dominant inherited partial epilepsy syndrome with onset between age 3 and 13 years. Seizures are characterized by PARESTHESIA and tonic or clonic activity of the lower face associated with drooling and dysarthria. In most cases, affected children are neurologically and developmentally normal. (From Epilepsia 1998 39;Suppl 4:S32-S41)Status Epilepticus: A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (From N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30)Epilepsy, Post-Traumatic: Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)Clonazepam: An anticonvulsant used for several types of seizures, including myotonic or atonic seizures, photosensitive epilepsy, and absence seizures, although tolerance may develop. It is seldom effective in generalized tonic-clonic or partial seizures. The mechanism of action appears to involve the enhancement of GAMMA-AMINOBUTYRIC ACID receptor responses.Ataxia: Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.Convulsants: Substances that act in the brain stem or spinal cord to produce tonic or clonic convulsions, often by removing normal inhibitory tone. They were formerly used to stimulate respiration or as antidotes to barbiturate overdose. They are now most commonly used as experimental tools.Magnetic Resonance Imaging: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.Lafora Disease: A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)MELAS Syndrome: A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.RNA, Transfer, Lys: A transfer RNA which is specific for carrying lysine to sites on the ribosomes in preparation for protein synthesis.Video Recording: The storing or preserving of video signals for television to be played back later via a transmitter or receiver. Recordings may be made on magnetic tape or discs (VIDEODISC RECORDING).Photosensitivity Disorders: Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy.Precipitating Factors: Factors associated with the definitive onset of a disease, illness, accident, behavioral response, or course of action. Usually one factor is more important or more obviously recognizable than others, if several are involved, and one may often be regarded as "necessary". Examples include exposure to specific disease; amount or level of an infectious organism, drug, or noxious agent, etc.Brain: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.Triazines: Heterocyclic rings containing three nitrogen atoms, commonly in 1,2,4 or 1,3,5 or 2,4,6 formats. Some are used as HERBICIDES.Age of Onset: The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.Sclerosis: A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve.Syndrome: A characteristic symptom complex.Carbamazepine: An anticonvulsant used to control grand mal and psychomotor or focal seizures. Its mode of action is not fully understood, but some of its actions resemble those of PHENYTOIN; although there is little chemical resemblance between the two compounds, their three-dimensional structure is similar.Mitochondrial Encephalomyopathies: A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)Cyclopentolate: A parasympatholytic anticholinergic used solely to obtain mydriasis or cycloplegia.Hyperglycinemia, Nonketotic: An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.Pilocarpine: A slowly hydrolyzed muscarinic agonist with no nicotinic effects. Pilocarpine is used as a miotic and in the treatment of glaucoma.Anterior Temporal Lobectomy: A neurosurgical procedure that removes the anterior TEMPORAL LOBE including the medial temporal structures of CEREBRAL CORTEX; AMYGDALA; HIPPOCAMPUS; and the adjacent PARAHIPPOCAMPAL GYRUS. This procedure is generally used for the treatment of intractable temporal epilepsy (EPILEPSY, TEMPORAL LOBE).Thalamus: Paired bodies containing mostly GRAY MATTER and forming part of the lateral wall of the THIRD VENTRICLE of the brain.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Tremor: Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Chromosomes, Human, Pair 6: A specific pair GROUP C CHROMSOMES of the human chromosome classification.RNA, Transfer, Leu: A transfer RNA which is specific for carrying leucine to sites on the ribosomes in preparation for protein synthesis.Dystonic Disorders: Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset.Sodium Channels: Ion channels that specifically allow the passage of SODIUM ions. A variety of specific sodium channel subtypes are involved in serving specialized functions such as neuronal signaling, CARDIAC MUSCLE contraction, and KIDNEY function.Receptors, GABA-A: Cell surface proteins which bind GAMMA-AMINOBUTYRIC ACID and contain an integral membrane chloride channel. Each receptor is assembled as a pentamer from a pool of at least 19 different possible subunits. The receptors belong to a superfamily that share a common CYSTEINE loop.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Death, Sudden: The abrupt cessation of all vital bodily functions, manifested by the permanent loss of total cerebral, respiratory, and cardiovascular functions.Movement Disorders: Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.Occipital Lobe: Posterior portion of the CEREBRAL HEMISPHERES responsible for processing visual sensory information. It is located posterior to the parieto-occipital sulcus and extends to the preoccipital notch.Neuroimaging: Non-invasive methods of visualizing the CENTRAL NERVOUS SYSTEM, especially the brain, by various imaging modalities.Neurosurgical Procedures: Surgery performed on the nervous system or its parts.Epilepsies, Partial: Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)Malformations of Cortical Development: Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay.Hippocampus: A curved elevation of GRAY MATTER extending the entire length of the floor of the TEMPORAL HORN of the LATERAL VENTRICLE (see also TEMPORAL LOBE). The hippocampus proper, subiculum, and DENTATE GYRUS constitute the hippocampal formation. Sometimes authors include the ENTORHINAL CORTEX in the hippocampal formation.Temporal Lobe: Lower lateral part of the cerebral hemisphere responsible for auditory, olfactory, and semantic processing. It is located inferior to the lateral fissure and anterior to the OCCIPITAL LOBE.Psychosurgery: Treatment of chronic, severe and intractable psychiatric disorders by surgical removal or interruption of certain areas or pathways in the brain, especially in the prefrontal lobes.Retrospective Studies: Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.Epilepsy, Benign Neonatal: A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5)Subacute Sclerosing Panencephalitis: A rare, slowly progressive encephalitis caused by chronic infection with the MEASLES VIRUS. The condition occurs primarily in children and young adults, approximately 2-8 years after the initial infection. A gradual decline in intellectual abilities and behavioral alterations are followed by progressive MYOCLONUS; MUSCLE SPASTICITY; SEIZURES; DEMENTIA; autonomic dysfunction; and ATAXIA. DEATH usually occurs 1-3 years after disease onset. Pathologic features include perivascular cuffing, eosinophilic cytoplasmic inclusions, neurophagia, and fibrous gliosis. It is caused by the SSPE virus, which is a defective variant of MEASLES VIRUS. (From Adams et al., Principles of Neurology, 6th ed, pp767-8)Ketogenic Diet: A course of food intake that is high in FATS and low in CARBOHYDRATES. This diet provides sufficient PROTEINS for growth but insufficient amount of carbohydrates for the energy needs of the body. A ketogenic diet generates 80-90% of caloric requirements from fats and the remainder from proteins.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Family Health: The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.Kindling, Neurologic: The repeated weak excitation of brain structures, that progressively increases sensitivity to the same stimulation. Over time, this can lower the threshold required to trigger seizures.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
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UPPER CERVICAL CHIROPRACTIC CARE FOR A 25-YEAR-OLD WOMAN WITH MYOCLONIC SEIZURES... http://www.chiro.org/research/ABSTRACTS/UCC_ ... The prevalence of epilepsy in those younger than 18 years is estimated to be 4.7 per 1000. [1, 2] Juvenile myoclonic epilepsy ( ... Juvenile myoclonic epilepsy usually requires lifelong treatment because seizures nearly always return after withdrawal of ... 2, 3, 8] Juvenile myoclonic epilepsy is a lifelong disorder. Treatment is often continued indefinitely to prevent recurrences, ...
Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy.... of idiopathic generalized epilepsies, is genetically heterogeneous. Mutations in the alpha-1 subunit of the GABAA receptor ( ... Juvenile myoclonic epilepsy (JME), accounting for approximately 25% of idiopathic generalized epilepsies, is genetically ... Myoclonic Epilepsy, Juvenile / genetics. Pedigree. Polymorphism, Genetic*. Protein Subunits / genetics. Receptors, GABA-A / ... Title: Epilepsy research Volume: 71 ISSN: 0920-1211 ISO Abbreviation: Epilepsy Res. Publication Date: 2006 Oct ...
Zonisamide for the treatment of myoclonic seizures in progressive myoclonic epilepsy: an open-label study.To examine the safety and efficacy of zonisamide in treating myoclonic seizures associated with progressive myoclonic epilepsy ... To examine the safety and efficacy of zonisamide in treating myoclonic seizures associated with progressive myoclonic epilepsy ... Myoclonic seizures were recorded daily over a 24-hour period or in 10-minute epochs in the morning, afternoon, and evening. ... 16417859 - Efficacy and safety of topiramate in refractory epilepsy of childhood: long-term follow.... 14988669 - Efficacy of ...
Myoclonic astatic epilepsy (Doose syndrome) | Epilepsy ActionSearch ...
Juvenile Myoclonic Epilepsy - Treatment, Prognosis, Symptoms... It is otherwise known as Janz syndrome, or impulsive petit mal. ... What is Juvenile Myoclonic Epilepsy?. Juvenile Myoclonic Epilepsy is otherwise known as Janz syndrome, Myoclonic epilepsy or ... Juvenile Myoclonic Epilepsy Prognosis. Even if the Juvenile Myoclonic Epilepsy is considered to be a benign condition, still it ... Juvenile Myoclonic Epilepsy Causes. Juvenile Myoclonic Epilepsy has an idiopathic cause or etiology or in layman's term the ...
How common is adult myoclonic epilepsy | www.QACollections.comIt also has been diagnosed in 33 percent of people who have experienced an unprovoked, single seizure.Source:Epilepsy ... About 200,000 cases of adult myoclonic epilepsy are diagnosed annually, mostly in children under the age of two and people over ... Top Q&A For: How common is adult myoclonic epilepsy Does a myoclonic jerk always mean epilepsy?. On One Hand: Myoclonic Jerks ... How common is adult myoclonic epilepsy?. About 200,000 cases of adult myoclonic epilepsy are diagnosed annually, mostly in ...
EPILEPSY, PROGRESSIVE MYOCLONIC, 8Build: Wed Jun 21 18:33:50 EDT 2017 (commit: 4a3b2dc). National Center for Advancing Translational Sciences (NCATS), 6701 Democracy Boulevard, Bethesda MD 20892-4874 • 301-435-0888. ...
DMOZ - Health: Conditions and Diseases: Neurological Disorders: Epilepsy: Progressive MyoclonicA group of syndromes featuring a combination of myoclonic and tonic-clonic seizures. Unsteadiness, muscle rigidity, and mental ... "Health ... Progressive Myoclonic" search on: AOL - Ask - Bing - DuckDuckGo - Gigablast - Google - ixquick - Yahoo - Yandex - ... A group of syndromes featuring a combination of myoclonic and tonic-clonic seizures. Unsteadiness, muscle rigidity, and mental ...
DMOZ - Health: Conditions and Diseases: Neurological Disorders: Epilepsy: Progressive Myoclonic: Unverricht-Lundborg Disease... infancy and early childhood at the age of 6 to 15 years presenting with epileptic seizures followed soon later by myoclonic ... Health Conditions and Diseases Neurological Disorders Epilepsy Progressive Myoclonic Unverricht-Lundborg Disease 1 ... infancy and early childhood at the age of 6 to 15 years presenting with epileptic seizures followed soon later by myoclonic ...
Epilepsy Awareness For All conversations - Circle of MomsSince starting in February 2009 Epilepsy Awareness 2009 has been on Circle of Moms offering support to... ... Progressive Myoclonic Epilepsies. What is it like? Here's a parent's view: "At first the doctors just thought Avi had a seizure ... Photosensitive Epilepsy/photophobia and FL 41 lenses to treat it. Hi, I just wanted to post about the FL 41 lens used to help ... My Husband has Epilepsy... Looking for Support. Hello out there (sorry this is a long post, just wanted to see if anyone else ...
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Spritam - FDA prescribing information, side effects and uses... predominately juvenile myoclonic epilepsy, juvenile absence epilepsy, childhood absence epilepsy, or epilepsy with Grand Mal ... Myoclonic Seizures in Patients with Juvenile Myoclonic Epilepsy. Effectiveness of Myoclonic Seizures in Patients 12 Years of ... Myoclonic Seizures in Patients 12 Years of Age and Older with Juvenile Myoclonic Epilepsy. Initiate Spritam with a dose of 1000 ... Myoclonic Seizures in Patients with Juvenile Myoclonic Epilepsy. Spritam is indicated as adjunctive therapy in the treatment of ...
MT-TL1 gene - Genetics Home ReferenceMutations in the MT-TL1 gene have been found in a few people with features of myoclonic epilepsy with ragged-red fibers (MERRF ...
Epilepsy Patients Could Be Helped by Drug-infused Polymer ImplantsJuvenile Myoclonic Epilepsy. Juvenile myoclonic epilepsy is a form of generalized seizure characterized by sudden jerky ... Cancer, Epilepsy Surgeries may Be Improved by Laser 'microscalpel'. The precision of surgeries for cancer, epilepsy and other ... Epilepsy and Slides - Animation. Epilepsy is a medical condition where the brain cells fire abnormal electrical signals that ... Epilepsy. Fits or convulsions or Epilepsy is characterized by recurrent, involuntary seizures and is described as a chronic ...
Genetic Disease Gene Identification - Full Text View - ClinicalTrials.govEpilepsy. Dementia. Intellectual Disability. Epilepsy, Generalized. Mental Retardation, X-Linked. Epilepsies, Myoclonic. ... Congenital Vertical Talus Familial Encephalopathy With Neuroserpin Inclusion Bodies Idiopathic Generalised Epilepsy Familial ... Idiopathic generalised epilepsy (IGE), Renpenning syndrome, transient neonatal diabetes with 6q UPD, translocation (13;14), ...
https://clinicaltrials.gov/ct2/show/NCT00916903?term=Cerebral Cavernous Malformation&rank=2
Compassionate Use of Stiripentol in Dravet Syndrome - Full Text View - ClinicalTrials.govEpilepsies, Myoclonic. Disease. Pathologic Processes. Epilepsy. Brain Diseases. Central Nervous System Diseases. Nervous System ... Genetics Home Reference related topics: CHD2 myoclonic encephalopathy genetic epilepsy with febrile seizures plus pyridoxal 5& ...
progressive myoclonus epilepsy Disease Ontology Browser - DOID:891Synonyms: PME; progressive myoclonic epilepsy; progressive myoclonic epilepsy; progressive myoclonic epilepsy (disorder); ... progressive myoclonic epilepsy (disorder) [Ambiguous]; progressive Myoclonus epilepsy ... Synonyms: PME; progressive myoclonic epilepsy; progressive myoclonic epilepsy; progressive myoclonic epilepsy (disorder); ... progressive myoclonic epilepsy (disorder) [Ambiguous]; progressive Myoclonus epilepsy Alt IDs: OMIM:254900, OMIM:310370, OMIM: ...
Daughter Recently Diagnosed With Epilepsy - Circle of MomsDaughter recently diagnosed with epilepsy - Moms of Epileptic/Seizure Disorder Kids ... Progressive Myoclonic Epilepsies What is it like? Here's a parent's view: "At first the doctors just thought Avi had a... ... sleep related epilepsy - My 5 year old daughter has epilepsy... My 5 year old daughter has epilepsy but she only has fits in ... My husband was diagnosed with Epilepsy at the age of 13 and after suffering a fall at work (caused by a seizure) he was given ...
Can Any Mom Tell Me About Zonisamide ? - Circle of MomsProgressive Myoclonic Epilepsies What is it like? Here's a parent's view: "At first the doctors just thought Avi had a... ... Autism and epilepsy - I'd be curious to know how many of you... I'd be curious to know how many of you have children with both ... My son has epilepsy. it started when he was only 4 mos. old. Then followed with a... ... Zonegran is used together with other anti-convulsant medications to treat partial seizures in adults with epilepsy. ...
Epilepsy and the Autonomic Nervous System: Overview, Methodology, Ictal (Peri-ictal) Autonomic Changes... juvenile myoclonic epilepsy; mix = different types of epilepsies; N = within normal limits; PS = parasympathetic; rest = at ... juvenile myoclonic epilepsy; mix = different types of epilepsies; N = within normal limits; PS = parasympathetic; rest = at ... suffered from a rare form of temporal lobe epilepsy termed ecstatic epilepsy, also called Dostoevsky epilepsy. It is reported ... Patients with epilepsy have a mortality rate that is 2-3 times that of the general population because of epilepsy-related ...
Epilepsy's Big Fat Miracle - The New York TimesEpilepsy was first diagnosed in 2005, when Sam was just shy of 5. The diagnosis then was myoclonic epilepsy. Each day he would ... Epilepsy's Big Fat Miracle. By FRED VOGELSTEIN. NOV. 17, 2010. Continue reading the main story Share This Page Continue reading ... But Sam has epilepsy, and the food he eats is controlling most of his seizures (he used to have as many as 130 a day). The diet ... FAMILY CIRCLE Sam's twin sister, Beatrice, also has epilepsy. Credit Tierney Gearon for The New York Times I hit my low point ...
Encyclopedia of Movement Disorders | R2 Digital LibraryMyoclonic Epilepsy with Ragged Red Fibers (MERRF) * Myoclonus * Myoclonus, Animal Models * Myoclonus, Epileptic ...
Lafora disease | Genetic and Rare Diseases Information Center (GARD) - an NCATS ProgramEpilepsy progressive myoclonic 2; EPM2; Lafora body disorder; Epilepsy progressive myoclonic 2; EPM2; Myoclonic epilepsy of ... American Epilepsy Society 135 South LaSalle Street Suite 2850 Chicago, IL 60603 Telephone: +1-312-883-3800 Fax: +1-312-896-5784 ... Epilepsy Foundation 8301 Professional Place East Suite 200 Landover, MD 20785 Toll-free: 800-EFA-1000 (800-332-1000) Telephone ... severe form of progressive myoclonus epilepsy. The condition most commonly begins with epileptic seizures. in late childhood or ...
FCMTE1 - Anti-FCMTE1 Antibodies, shRNA, siRNA & Gene Information | Sigma-Aldrichfamilial cortical myoclonic tremor with epilepsy 1. Gene Product Result for View Related Gene Papers ...
Early myoclonic encephalopathy: Early myoclonic encephalopathy (EME) is an epilepsy syndrome where myoclonic seizures develop in the neonatal period. After several months, the seizure pattern may develop to infantile spasms (West syndrome).Idiopathic generalized epilepsy: Idiopathic generalized epilepsy (IGE) is a group of epileptic disorders that are believed to have a strong underlying genetic basis. Patients with an IGE subtype are typically otherwise normal and have no structural brain abnormalities.Epilepsy Research UK: Epilepsy Research UK is a British medical research charity dedicated to curing epilepsy.Palatal myoclonusSpinal muscular atrophy with progressive myoclonic epilepsy: Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting (atrophy), predominantly affecting distal muscles, combined with denervation and myoclonic seizures.Protective index: The protective index is a comparison of the amount of a therapeutic agent that causes the therapeutic effect to the amount that causes toxicity. Quantitatively, it is the ratio given by the toxic dose divided by the therapeutic dose.Hypergraphia: Hypergraphia is a behavioral condition characterized by the intense desire to write. Forms of hypergraphia can vary in writing style and content.Photosensitive epilepsy: Photosensitive epilepsy (PSE) is a form of epilepsy in which seizures are triggered by visual stimuli that form patterns in time or space, such as flashing lights, bold, regular patterns, or regular moving patterns.Quantitative electroencephalography: Quantitative electroencephalography (QEEG) is a field concerned with the numerical analysis of electroencephalography data and associated behavioral correlates.Tonic–clonic seizureDyssynergia: Dyssynergia is any disturbance of smooth muscular coordination, resulting in uncoordinated and abrupt movements. It is typical for dyssynergic patients to split a movement into several smaller movements.Psychogenic non-epileptic seizuresChildhood absence epilepsy: Childhood absence epilepsy (CAE), also known as pyknolepsy, is an idiopathic generalized epilepsy which occurs in otherwise normal children. The age of onset is between 4–10 years with peak age between 5–7 years.LevetiracetamPEHO syndrome: PEHO syndrome is a progressive encephalopathy with edema, hypsarrhythmia and optic atrophy. It is a very rare disease, one of the Finnish heritage diseases, and has been reported also in Dutch and Swiss infants.ValpromideFebrile seizurePentylenetetrazolAutosomal dominant nocturnal frontal lobe epilepsyRolandic epilepsySoo Ik Lee: Soo Ik Lee, MD (died 1995) was a Korean-born American neurologist and a subspecialist in clinical neurophysiology based at the University of Virginia in Charlottesville, Virginia.Epileptogenesis: Epileptogenesis is the gradual process by which a normal brain develops epilepsy. Epilepsy is a chronic condition in which seizures occur.ClonazepamFragile X-associated tremor/ataxia syndrome: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder associated with problems of movement, memory, and the autonomic nervous system. It is related to the disease fragile X syndrome, although FXTAS is a clinically distinct syndrome.HyperintensityLafora diseaseNeoglyphidodon melas: Neoglyphidodon melas (bowtie damselfish, black damsel, bluefin or royal damsel) is a damselfish from the Indo-West Pacific. It occasionally makes its way into the aquarium trade.Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.Professional DiscChronic actinic dermatitis: Chronic actinic dermatitis (also known as "Actinic reticuloid," "Chronic photosensitivity dermatitis," "Persistent light reactivity," and "Photosensitive eczema") is a condition where a subject's skin becomes inflamed due to a reaction to sunlight or artificial light. Patients often suffer from other related conditions of the skin that cause dermatitis in response to a variety of stimuli (e.Windsor Railway BridgeTriazine: A triazine is class of nitrogen-containing heterocycles. The parent molecules' molecular formula is 333.Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).CarbamazepineMitochondrial neurogastrointestinal encephalopathy syndromeCyclopentolateDual disorders pathologyHyperphosphatasia with mental retardation syndrome: Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.Holmes tremor: First identified by Gordon Holmes in 1904, Holmes tremor can be described as a wing-beating movement localized in the upper body that is caused by cerebellar damage. Holmes tremor is a combination of rest, action, and postural tremors.Silent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Transient neonatal diabetes mellitusYoshiyuki TominoSodium channel: Sodium channels are integral membrane proteins that form ion channels, conducting sodium ions (Na+) through a cell's plasma membrane. They are classified according to the trigger that opens the channel for such ions, i.Org 20599Phenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Sudden Unexplained Death in Childhood: Sudden Unexplained Death In Childhood (SUDC) is the death of a child over the age of 12 months which remains unexplained after a thorough investigation and autopsy. There has not been enough research to identify risk factors, common characteristics, or prevention strategies for SUDC.The Movement Disorder SocietyPolymicrogyriaPlace cellBrodmann area 38: Brodmann area 38, also BA38 or temporopolar area 38 (H), is part of the temporal cortex in the human brain. BA 38 is at the anterior end of the temporal lobe, known as the temporal pole.Psychosurgery: Psychosurgery, also called neurosurgery for mental disorder (NMD), is the neurosurgical treatment of mental disorder. Psychosurgery has always been a controversial medical field.Benign familial infantile epilepsy: Benign familial infantile epilepsy (BFIE), also known as benign familial infantile seizures (BFIS) or benign familial infantile convulsions (BFIC) is an epilepsy syndrome. Affected children, who have no other health or developmental problems, develop seizures during infancy.Progressive rubella panencephalitis: Progressive rubella panencephalitis (PRP) is a neurological disorder which may occur in a child with congenital rubella. It is a slow viral infection of the brain characterized by chronic encephalitis, usually manifesting between 8–19 years of age.Cyclic ketogenic diet: A cyclic ketogenic diet (or carb-cycling) is a low-carbohydrate diet with intermittent periods of high or moderate carbohydrate consumption. This is a form of the general Ketogenic diet that is used as a way to maximize fat loss while maintaining the ability to perform high-intensity exercise.Missense mutation: In genetics, a missense mutation (a type of nonsynonymous substitution) is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Another type of nonsynonymous substitution is a nonsense mutation in which a codon is changed to a premature stop codon that results in truncation of the resulting protein.Kindling model: Kindling is a commonly used model for the development of seizures and epilepsy in which the duration and behavioral involvement of induced seizures increases after seizures are induced repeatedly.Gross pathology: Gross pathology refers to macroscopic manifestations of disease in organs, tissues, and body cavities. The term is commonly used by anatomical pathologists to refer to diagnostically useful findings made during the gross examination portion of surgical specimen processing or an autopsy.
(1/180) Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter.
Differential display polymerase chain reaction has been used to isolate genes regulated in vascular endothelial cells by the angiogenic factor vascular endothelial cell growth factor (VEGF). Analysis of one of the bands consistently up-regulated by VEGF led us to the identification of a cDNA from a human umbilical vein endothelial cell library that is 77% identical to the human K+-Cl- cotransporter1 (KCC1). We have referred to the predicted protein as K+-Cl- cotransporter 3 (KCC3). Hydrophobicity analysis of the KCC3 amino acid sequence showed an almost identical pattern to KCC1, suggesting 12 membrane-spanning segments, a large extracellular loop with potential N-glycosylation sites, and cytoplasmic N- and C-terminal regions. The KCC3 mRNA was highly expressed in brain, heart, skeletal muscle, and kidney, showing a distinct pattern and size from KCC1 and KCC2. The KCC3 mRNA level in endothelial cells increased on treatment with VEGF and decreased with the proinflammatory cytokine tumor necrosis factor alpha, whereas KCC1 mRNA levels remained unchanged. Stable overexpression of KCC3 cDNA in HEK293 cells produced a glycoprotein of approximately 150 kDa, which was reduced to 120 kDa by glycosidase digestion. An increased initial uptake rate of 86Rb was seen in clones with high KCC3 expression, which was dependent on extracellular Cl- but not Na+ and was inhibitable by the loop diuretic agent furosemide. The KCC3 genomic localization was shown to be 15q13 by fluorescence in situ hybridization. Radiation hybrid analysis placed KCC3 within an area associated with juvenile myoclonic epilepsy. These results suggest KCC3 is a new member of the KCC family that is under distinct regulation from KCC1. (+info)
(2/180) Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8-and genetic heterogeneity.
Several loci and candidate genes for epilepsies or epileptic syndromes map or have been suggested to map to chromosome 8. We investigated families with adolescent-onset idiopathic generalized epilepsy (IGE), for linkage to markers spanning chromosome 8. The IGEs that we studied included juvenile myoclonic epilepsy (JME), epilepsy with only generalized tonic-clonic seizures occurring either randomly during the day (random grand mal) or on awakening (awakening grand mal), and juvenile absence epilepsy (JAE). We looked for a gene common to all these IGEs, but we also investigated linkage to specific subforms of IGE. We found evidence for linkage to chromosome 8 in adolescent-onset IGE families in which JME was not present. The maximum multipoint LOD score was 3.24 when family members with IGE or generalized spike-and-waves (SW) were considered affected. The LOD score remained very similar (3.18) when clinically normal family members with SW were not considered to be affected. Families with either pure grand mal epilepsy or absence epilepsy contributed equally to the positive LOD score. The area where the LOD score reaches the maximum encompasses the location of the gene for the beta3-subunit of the nicotinic acetylcholine receptor (CHRNB3), thus making this gene a possible candidate for these specific forms of adolescent-onset IGE. The data excluded linkage of JME to this region. These results indicate genetic heterogeneity within IGE and provide no evidence, on chromosome 8, for a gene common to all IGEs. (+info)
(3/180) Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.
Benign adult familial myoclonic epilepsy is an autosomal dominant idiopathic epileptic syndrome characterized by adult-onset tremulous finger movement, myoclonus, epileptic seizures, and nonprogressive course. It was recently recognized in Japanese families. In this study, we report that the gene locus is assigned to the distal long arm of chromosome 8, by linkage analysis in a large Japanese kindred with a maximum two-point LOD score of 4.31 for D8S555 at recombination fraction of 0 (maximum multipoint LOD score of 5.42 for the interval between D8S555 and D8S1779). Analyses of recombinations place the locus within an 8-cM interval, between D8S1784 and D8S1694, in which three markers, D8S1830, D8S555, and D8S1779, show no recombination with the phenotypes. Although three other epilepsy-related loci on chromosome 8q have been recognized-one on chromosome 8q13-21 (familial febrile convulsion) and two others on chromosome 8q24 (KCNQ3 and childhood absence epilepsy)-the locus assigned here is distinct from these three epilepsy-related loci. This study establishes the presence of a new epilepsy-related locus on 8q23.3-q24.11. (+info)
(4/180) Assessment of linkage disequilibrium by the decay of haplotype sharing, with application to fine-scale genetic mapping.
Linkage disequilibrium (LD) is of great interest for gene mapping and the study of population history. We propose a multilocus model for LD, based on the decay of haplotype sharing (DHS). The DHS model is most appropriate when the LD in which one is interested is due to the introduction of a variant on an ancestral haplotype, with recombinations in succeeding generations resulting in preservation of only a small region of the ancestral haplotype around the variant. This is generally the scenario of interest for gene mapping by LD. The DHS parameter is a measure of LD that can be interpreted as the expected genetic distance to which the ancestral haplotype is preserved, or, equivalently, 1/(time in generations to the ancestral haplotype). The method allows for multiple origins of alleles and for mutations, and it takes into account missing observations and ambiguities in haplotype determination, via a hidden Markov model. Whereas most commonly used measures of LD apply to pairs of loci, the DHS measure is designed for application to the densely mapped haplotype data that are increasingly available. The DHS method explicitly models the dependence among multiple tightly linked loci on a chromosome. When the assumptions about population structure are sufficiently tractable, the estimate of LD is obtained by maximum likelihood. For more-complicated models of population history, we find means and covariances based on the model and solve a quasi-score estimating equation. Simulations show that this approach works extremely well both for estimation of LD and for fine mapping. We apply the DHS method to published data sets for cystic fibrosis and progressive myoclonus epilepsy. (+info)
(5/180) Dopey's seizure.
Angelman syndrome is a neurogenetic condition namely characterized by developmental delay, virtual absence of expressive verbal language, peculiar organization of movement, seizures and happy demeanor. This syndrome has been recognized since 1965, but it seems that Walt Disney presented an original depiction of it in his first full-length animated film, including myoclonic jerks and an apparently generalized tonic-clonic seizure. (+info)
(6/180) Instability of the EPM1 minisatellite.
Inherited mutations in the cystatin B gene ( CSTB ) are responsible for progressive myoclonus epilepsy type 1 (EPM1; MIM 254800). This autosomal recessive disease is characterized by variable progression to mental retardation, dementia and ataxia. The majority of EPM1 alleles identified to date contain expansions of a dodecamer repeat located upstream of the transcription start site of the CSTB gene. Normal alleles contain two or three copies of the repeat, whereas pathogenic alleles contain >40 repeats. We examined the meiotic stability of pathogenic, expanded EPM1 alleles from 17 EPM1 families by employing a fluorescence-based PCR-based genotyping assay capable of detecting single dodecamer repeat unit differences on an automated DNA sequencer. We followed 74 expanded allele transmissions to 30 affected individuals and 22 carriers. Thirty-five of 74 expanded allele transmissions demonstrated either contraction or expansion of the minisatellite, typically by a single repeat unit. Thus expanded alleles of the EPM1 minisatellite demonstrate a mutation rate of 47%, the highest yet observed for pathogenetic alleles of a human minisatellite. (+info)
(7/180) Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI.
MRI scans of patients with idiopathic generalized epilepsy (IGE) are normal on visual assessment. Using an interactive anatomical segmentation technique and volume-of-interest measurements of MRI, we showed recently that patients with IGE had significantly larger cortical grey matter than control subjects. Further, 40% of individual patients with juvenile myoclonic epilepsy (JME), a syndrome of IGE in adolescence, had significant abnormalities of cerebral structure. In this study, we applied the automated and objective technique of statistical parametric mapping (SPM) to the analysis of structural MRI from 20 patients with JME and 30 control subjects. The cortical grey matter of each individual JME patient and the group of JME patients was contrasted with that of the group of 30 normal subjects. The voxel-based SPM comparison between the group of JME patients and the control subjects showed an increase in cortical grey matter in the mesial frontal lobes of the patients. Analysis of individual patients revealed significant abnormalities of cortical grey matter in five out of 20 JME patients, four of whom had been shown to have widespread abnormalities using the previous volume of interest technique. These findings indicate a structural cerebral abnormality in JME, with involvement of mesiofrontal cortical structures. (+info)
(8/180) Neuropsychological EEG activation in patients with epilepsy.
To examine the effects of higher mental activity on the EEG, 480 Japanese patients with different types of epilepsy were subjected to potentially provocative cognitive tasking, termed 'neuropsychological EEG activation' (NPA), during standard EEG recordings. NPA tasks consisted of reading, speaking, writing, written arithmetic calculation, mental arithmetic calculation and spatial construction. The NPA tasks provoked epileptic discharges in 38 patients (7.9%) and were accompanied by myoclonic seizures in 15 patients, absence seizures in eight and simple partial seizures in one. Among the cognitive tasks, mental activities mainly associated with use of the hands, i.e. writing (68.4%), written calculation (55. 3%) and spatial conction (63.2%), provoked the most discharges, followed by mental calculation (7.9%) and reading (5.3%). Detailed examination of the precipitating events revealed action-programming type activities to be the most crucial in 32 out of the 38 patients (84.2%), followed by thinking type activities in four patients (10. 5%). Regarding the classification of epilepsies proposed by the International League Against Epilepsy, seizure-precipitating mental activities in our series were almost exclusively (in 36 out of the 38 patients) related to idiopathic generalized epilepsies (IGEs) including juvenile myoclonic epilepsy, juvenile absence epilepsy, grand mal epilepsy on awakening and childhood absence epilepsy, and were rarely (in only two out of the 38 patients) related to temporal lobe epilepsy. In our IGE patients, the provocative effects of NPA were related to myoclonic seizures rather than absence or generalized tonic-clonic seizures. These results suggest that NPA is a useful tool for examining the relationship between cognitive function and epileptic seizures, and that the IGE patients with myoclonic seizures are vulnerable to higher mental activities requiring action-programming or thinking. (+info)
- A role for disease-causing mutations in cystatin B gene in patients with juvenile myoclonic epilepsy was not supported. (nih.gov)
- No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. (nih.gov)
- Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. (biomedsearch.com)
- Juvenile myoclonic epilepsy (JME), accounting for approximately 25% of idiopathic generalized epilepsies, is genetically heterogeneous. (biomedsearch.com)
- Juvenile Myoclonic Epilepsy is otherwise known as Janz syndrome, Myoclonic epilepsy or impulsive petit mal which was described first by Dr. Dieter Janz during the year 1956. (ehealthwall.com)
- Most of the persons inflicted with Juvenile Myoclonic Epilepsy are those at the age between 8 to 26 years old. (ehealthwall.com)
- Generally speaking, the juvenile Myoclonic epilepsy may exist during puberty stage but may have the possibility when it exists prior to puberty stage. (ehealthwall.com)
- Juvenile Myoclonic Epilepsy has an idiopathic cause or etiology or in layman's term the cause is still unknown. (ehealthwall.com)
- According to research, fifty percent of those who were diagnosed or who suffer from Juvenile Myoclonic Epilepsy have a family medical history of epilepsy or seizure. (ehealthwall.com)
- Some persons usually have absence seizure or febrile seizure prior to the development of Juvenile Myoclonic Epilepsy. (ehealthwall.com)
- The diagnosis of Juvenile Myoclonic Epilepsy will be dependent on the presence of the Myoclonic jerks plus other additional seizure kinds as well as the patient's physical examination and medical historical data. (ehealthwall.com)
- For persons who are suspected to have Juvenile Myoclonic Epilepsy, they are suggested to do the EEG while the person is fast asleep and then when they just wake up from their sleep. (ehealthwall.com)
- Most of the diagnostic tests, as observed, are brain scans or brain wave recording because as mentioned in the symptoms section, the Juvenile Myoclonic Epilepsy is a kind of epilepsy that targets the brain. (ehealthwall.com)
- Hence, there is a need to monitor the brain activity of the person with Juvenile Myoclonic Epilepsy. (ehealthwall.com)
- From the diagnostic tests that were mentioned, the EEG provides the confirmative diagnostic test for Juvenile Myoclonic Epilepsy. (ehealthwall.com)
- According to studies conducted, the person with Juvenile Myoclonic Epilepsy has a great response mostly to the treatment given, if for in any instance, the diagnosis was made correctly. (ehealthwall.com)
- This is the most important thing that one needs to be informed when a person has Juvenile Myoclonic Epilepsy. (ehealthwall.com)
- Defects in GOSR2 are the cause of progressive myoclonic epilepsy type 6 (EPM6). (phosphosite.org)
- Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). (nih.gov)
- Zonisamide for the treatment of myoclonic seizures in progressive myoclonic epilepsy: an open-label study. (biomedsearch.com)
- PURPOSE: To examine the safety and efficacy of zonisamide in treating myoclonic seizures associated with progressive myoclonic epilepsy (PME), in an open-label setting. (biomedsearch.com)
- Currently, the International League Against Epilepsy (ILAE) has revised the terminology and epileptic spasms is now preferentially used to encompass the different age groups of onset. (rarediseases.org)
- or = 50% decrease in myoclonic seizure frequency from baseline. (biomedsearch.com)
- or = 50% reduction in myoclonic seizure frequency. (biomedsearch.com)
- The term infantile spasm has been used to describe the seizure type, the epilepsy syndrome, or both. (medscape.com)
- It is a familial kind of disease that has a characteristic of generalized kind of clonic tonic or tonic clonic seizure, milder form of Myoclonic seizure, and absence seizure. (ehealthwall.com)
- Myoclonic seizure may have the tendency spread through the person's brain. (ehealthwall.com)
- Myoclonic seizures were recorded daily over a 24-hour period or in 10-minute epochs in the morning, afternoon, and evening. (biomedsearch.com)
- Dravet syndrome, also known as severe myoclonic epilepsy of infancy (SMEI), is a rare and catastrophic form of intractable epilepsy that begins in infancy. (medgadget.com)
- The Dravet Syndrome (Central Nervous System) pipeline guide also reviews of key players involved in therapeutic development for Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy) and features dormant and discontinued projects. (medgadget.com)
- West syndrome is a severe epilepsy syndrome composed of the triad of infantile spasms, an interictal electroencephalogram ( EEG ) pattern termed hypsarrhythmia, and mental retardation, although the diagnosis can be made even if 1 of the 3 elements is missing (according to the international classification). (medscape.com)